神经营养因子治疗视网膜色素变性的研究进展

神经营养因子是能够促进神经元存活、生长、分化及维持其功能的多效性肽类因子的总称,可被作为有效的神经保护剂用于治疗多种神经变性类疾病.视网膜色素变性(RP)是以光感受器-视网膜色素上皮复合体损害为主的高度遗传异质性视网膜变性疾病,神经营养因子作为不针对致病基因的RP治疗策略,其疗效已在多种视网膜变性的动物模型中得到证实.以病毒为载体的转基因治疗和细胞包囊技术为神经营养因子提供了有效的给药途径,可使疗效明显提高.对神经营养因子在视网膜中的表达及其调节、受体分布特点、作用通路、疗效及副作用等方面的深入研究为神经营养因子的临床应用奠定了基础.     

视网膜色素变性的研究进展

视网膜色素变性(retinitis pigmentosa,RP)是常见的与遗传相关的致盲性眼病之一,随着人类基因图谱的成功建立,它成为近几年国内外基础医学和临床医学共同的研究热点。本文回顾十余年来国内外特别是国外相关文献,对视网膜色素变性的发病机制、治疗方法的研究进展作一综述。     

神经营养因子治疗视网膜色素变性的研究进展

目前为止发现了30余种视网膜色素变性(RP)的致病相关基因,发病机制研究提示凋亡可能是它们引起光感受器细胞萎缩的共同病理途径。神经营养因子是一类对神经系统的分化、发育,对神经元的存活,轴突再生均有重要作用的细胞因子。它们可能通过调控视网膜光感受器细胞的凋亡过程起到神经保护作用,有望成为治疗RP的有效药物。本文对近年来神经营养因子的光感受器保护作用、给药途径、治疗机制、副作用等方面的研究状况进行综述,其中基因工程改造的神经营养因子和基因修饰细胞半透膜埋植系统的研究取得了进展。     

神经营养因子治疗视网膜色素变性的研究进展

目前为止发现了30余种视网膜色素变性（RP）的致病相关基因,发病机制研究提示凋亡可能是它们引起光感受器细胞萎缩的共同病理途径.神经营养因子是一类对神经系统的分化、发育,对神经元的存活,轴突再生均有重要作用的细胞因子.它们可能通过调控视网膜光感受器细胞的凋亡过程起到神经保护作用,有望成为治疗RP的有效药物.本文对近年来神经营养因子的光感受器保护作用、给药途径、治疗机制、副作用等方面的研究状况进行综述,其中基因工程改造的神经营养因子和基因修饰细胞半透膜埋植系统的研究取得了进展.     

视网膜色素变性治疗进展

视网膜色素变性(RP)是一组以光感受器细胞进行性变性为特征,具有高度遗传异质性的致盲眼病,目前尚无有效方法阻止或逆转其进程.近年来随着对RP分子发病机制认识不断深入,RP基因治疗取得了初步成功;针对不同发病环节的抗凋亡、神经保护等多种治疗手段被尝试;而以干细胞为基础的移植治疗和视觉假体植入则为晚期患者带来了希望.     

脑源性神经营养因子治疗视网膜色素变性的研究进展

脑源性神经营养因子(BDNF)是一种由脑组织合成并广泛分布于中枢神经系统的小分子碱性蛋白.研究发现,BDNF对视网膜神经节细胞(RGCs)、视网膜感光细胞(RPCs)和视网膜色素上皮(RPE)细胞均有保护、营养及抗凋亡作用.视网膜色素变性(RP)是由于RPCs及RPE细胞凋亡引起的视网膜退行性疾病.RP动物模型证实了BDNF的长期给药对于RP的治疗价值.然而BDNF在体内的半衰期较短,且无法跨越血-视网膜屏障由循环系统输送到视网膜,这给BDNF用于RP的治疗带来了挑战.为了使BDNF在眼内可以稳定持续地释放,多种新型给药方式已被尝试,包括基因工程技术、细胞移植技术、高分子材料缓释系统及滴眼液等.本文就BDNF对RP治疗的研究现状及BDNF的新型给药方式做一综述.     

视网膜色素变性免疫学研究进展

视网膜色素变性是一种严重危害视功能的的致盲性眼病。至今病因不明,缺乏有效的治疗方法,因而成为防盲治盲中的重点疾病之一。过去一度认为是一种慢性遗传视网膜疾病。近年来随着免疫学研究深入,不少学者认为它属于一种自家免疫性疾病。故免疫疗法将为本病防治开辟广阔前景。     

视网膜色素变性基因治疗的研究现状及展望

视网膜色素变性(RP)发生与基因变异有着密切关系.探寻RP致病基因及分子发病机制;通过RP基因治疗延缓或阻止感光细胞的损失,保护视功能已成为研究热点.对某些基因突变类型进行RP基因治疗临床试验是今后值得重视的课题.     

单侧原发性视网膜色素变性一例

患者女,61岁.自幼自觉右眼视力下降,尤以夜晚明显,视物范围缩小.后上述症状逐渐加重,于2000年在当地医院诊断为右眼原发性视网膜色素变性(RP),并定期检查.近年自觉右眼视力下降速度加快,于2006年4月来我院眼科就诊.否认家族遗传病及类似病史,否认眼外伤、葡萄膜炎、高血压及梅毒病史.     

碘酸钠诱发的视网膜色素变性动物模型研究进展

视网膜色素变性(RP)是一组以视网膜色素上皮(RPE)和感光细胞的功能障碍或丧失为主要特征的致盲眼病,有很大的临床和遗传异质性.碘酸钠是抗代谢药物,可以选择性破坏RPE,它引起的视网膜病变与人类RP疾病的片状RPE缺损极为相似,因此常被用来制作RP疾病的模型.碘酸钠能诱发多种实验动物的RP模型,人们多使用单次碘酸钠注射的方法建立RP动物模型.由于碘酸钠诱发的RP动物模型的发病年龄和疾病进展均可人为操控,制备简单,病变稳定,周期短,且某些动物的RPE细胞在特殊条件下有再生的潜能,极有利于RP发病机制、药物或干/前体细胞治疗及再生医学方面的研究.目前有关碘酸钠诱发动物RP模型的研究和应用已有不少报道.本文根据国内外文献将碘酸钠诱发的RP动物模型的研究进展作一综述.     

儿童视网膜色素变性临床特点分析

目的探讨儿童视网膜色素变性在诊断和治疗方面的临床特点。方法将符合准入标准的27名14岁以下视网膜色素变性患者在进行视野检查后,分为有家族史患者组和无家族史患者组,用二十二碳六烯酸胶囊、β-胡萝卜素胶囊、血脂康胶囊治疗1年,以中心视力和视野平均缺损敏感度（MD）作为疗效的观察指标。观察总结儿童视网膜色素变性患者在诊断和治疗中的临床特点。结果归纳儿童视网膜色素变性患者的临床特点有：（1）他人发现患者患病;（2）全自动视野检测是首选的检查手段;（3）可能会有极少数患者被误诊;（4）无家族史患者比有家族史患者的治疗效果好。结论儿童视网膜色素变性患者具有4个临床特点。     

Cyclic exotropia associated with retinitis pigmentosa

Purpose To report the occurrence of cyclic exotropia in a patient with retinitis pigmentosa. Methods A 31-year-old man presented with cyclic exotropia of the left eye of 4 years duration that alternated every 24 h. A detailed ophthalmologic examination was performed. Results The patient showed an orthotropia and a comitant left exotropia of 30 prism diopters at distance and 25 prism diopters at near in the primary position on an exotropic day with a cycle of 48 h. A fundoscopic examination showed bone spicule formation and arteriolar narrowing, and electroretinography showed no response in either eye. A Goldmann visual field examination showed a central island in both eyes. Conclusions Cyclic exotropia may occur in patients with retinitis pigmentosa, an association that to the best of our knowledge has not been previously reported in the English ophthalmic literature. Cyclic exotropia is an unusual association with retinitis pigmentosa.     

Genetic features of retinitis pigmentosa in Turkey

Sixty-two cases with retinitis pigmentosa from 42 index families were investigated to reveal the genetic features of the disease in Turkey. There were 42 propositi of whom 5 had a systemic syndrome associated with retinitis pigmentosa. Of the remaining 37 cases the condition was autosomal recessive in 21 (56.8%), sporadic in 12 (32.4%), autosomal dominant in 3 (8.1%) and X-linked recessive in one (2.7%). Sporadic cases may be more frequent as many hereditary cases are not brought to medical attention in rural families. Male preponderance among sporadic cases may indicate that there may be more X-linked cases. Nine out of 21 cases initially classified as sporadic displayed parental consanguinity and they were included as having autosomal recessive trait. Large families with autosomal recessive inheritance may prove valuable in linkage analysis and in defining future gene abnormalities.     

視網膜色素變性(RP)患者的F-ERG特徵分析

目的對RP患者F-ERG進行檢查,以分析病程和作爲眼肌深層鞏膜移植術術後療效跟踪的客觀對照指標.方法采用常規無創傷視覺電生理描記術,測定暗視F-ERG.結果受檢的210名RP患者的420祗眼中,F-ERG爲"熄滅型"的爲67.9%,能記録到ERP的占19.8%,a-波爲28.3%,c-波僅爲4.0%,能記錄到b-波舆負後電位的分别爲10.7%和7.4%.說明RP患者視網膜對閃光刺激反應的機能已經顯著受損.結論 RP患者的F-ERG有不同程度的特有改變,在眼肌深層鞏膜移植術進行治療後,再復查F-ERG時,則觀察到某些波重現,或原有波的波幅增加和峰潜伏期縮短.     

Unilateral retinitis pigmentosa with amblyopia in the fellow eye

Purpose The purpose was to report a case of unilateral retinitis pigmentosa with amblyopia in the other eye.Methods Eight years ago, a 36-year-old woman complained of peripheral visual field loss in her left eye when she covered her right eye. Complete ophthalmological examinations including fundus photography and fluorescein angiography, full-field electroretinography, dark adaptation, and microperimetry were performed.Results Best-corrected visual acuity of the patient was 0.2 with +2.5 diopters in her right eye and 0.3 with +1.5 diopters in her left eye. Fundus examination did not reveal any abnormalities in the right eye, but narrow retinal vessels, optic disc pallor, and peripheral retinal pigment clumping was found in the left eye. The full-field electroretinography was normal in the right eye, but rod response, cone response, and combined response were non-recordable, and 30-Hz response was very small in the left eye. Dark adaptation thresholds were normal in the right eye, but were dramatically elevated in the left eye. Microperimetry was normal in the right eye, but the visual field was reduced to a 2×5° central field in the left eye.Conclusion Unilateral retinitis pigmentosa with amblyopia in the other eye is a rare condition. The patient presented here had a case of unilateral retinitis pigmentosa with the other eye with ametropic amblyopia. It is necessary to perform functional and morphological ophthalmological examinations to confirm the diagnosis.     

视网膜色素变性患者视觉电生理观察

目的 探讨视网膜色素变性（ＲＰ）患者的视觉电生理改变。方法 对１１０例２２０只眼视网膜色素变性患者进行Ｐ－ＶＥＰ、Ｆ－ＥＲＧ检查。结果 ＲＰ患者Ｐ１００波潜时与对照组相比明显延长,振幅则明显降低。ｂ波的振幅与病程长短、视力的降低程度、年龄大小有关,统计学处理有非常显著性差异。结论 随着病程延长、年龄的增加、视力的降低,ｂ波呈熄灭型的患者增加,表现视网膜损害程度加重。